Polycystic kidney disease: Difference between revisions
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The [http://www.pkdcure.org PKD Foundation] is the only non-profit organization worldwide dedicated solely to PKD research. | The [http://www.pkdcure.org PKD Foundation] is the only non-profit organization worldwide dedicated solely to PKD research. | ||
Parent of two children with ARPKD blog: www.kidneysandeyes.com | Parent of two children with ARPKD blog: www.kidneysandeyes.com | ||
==External links== | ==External links== | ||
Revision as of 11:59, 19 August 2012
Template:DiseaseDisorder infobox
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Polycystic kidney disease Microchapters |
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Differentiating Polycystic kidney disease from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Polycystic kidney disease On the Web |
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American Roentgen Ray Society Images of Polycystic kidney disease |
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Risk calculators and risk factors for Polycystic kidney disease |
For patient information page, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun M.D., PhD.
Synonyms and keywords: Polycystic kidney syndrome; polycystic kidney; PKD
Overview
Pathophysiology
Epidemiology & Demographics
Differentiating Polycystic kidney disease from Other Diseases
Natural History, Complications & Prognosis
Diagnosis
A definite diagnosis of ADPKD relies on imaging or molecular genetic testing. The sensitivity of testing is nearly 100% for all patients with ADPKD who are age 30 years or older and for younger patients with PKD1 mutations; these criteria are only 67% sensitive for patients with PKD2 mutations who are younger than age 30 years. Large echogenic kidneys without distinct macroscopic cysts in an infant/child at 50% risk for ADPKD are diagnostic. In the absence of a family history of ADPKD, the presence of bilateral renal enlargement and cysts, with or without the presence of hepatic cysts, and the absence of other manifestations suggestive of a different renal cystic disease provide presumptive, but not definite, evidence for the diagnosis.
Molecular genetic testing by linkage analysis or direct mutation screening is available clinically; however, genetic heterogeneity is a significant complication to molecular genetic testing. Sometimes a relatively large number of affected family members need to be tested in order to establish which one of the two possible genes is responsible within each family. The large size and complexity of PKD1 and PKD2 genes, as well as marked allelic heterogeneity, present obstacles to molecular testing by direct DNA analysis. In the research setting, mutation detection rates of 50-75% have been obtained for PKD1 and ~75% for PKD2. Clinical testing of the PKD1 and PKD2 genes by direct sequence analysis is now available, with a detection rate for disease-causing mutations of 50-70%.
Genetic counseling may be helpful for families at risk for polycystic kidney disease.
Adult type Polycystic kidney disease
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Resources
The PKD Foundation is the only non-profit organization worldwide dedicated solely to PKD research. Parent of two children with ARPKD blog: www.kidneysandeyes.com
External links